Genomic variant #0001109393

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.65347830G>A
Reference Copied from the Exome Variant Server
DB-ID EHBP1L1_000049
Frequency 5/12926
Freq. EA 4/8548
Freq. AA 1/4378
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EHBP1L1 NM_001099409.1 ?/? c.514G>A r.(?) p.(Ala172Thr)